MITOMAP References for Mutation T-C at 9957

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1 NA 1994 Manfredi, G., Bonilla, E., Schon, E.A., DiMauro, S., Moraes, C. (1994) A mitochondrial DNA missense mutation in the cytochrome oxidase subunit III gene associated with a progressive encephalopathy Miami Short Reports . 4 (-): 17 .
2 7496173 1995 Manfredi, G., Schon, E.A., Moraes, C.T., Bonilla, E., Berry, G.T., Sladky, J.T., DiMauro, S. (1995) A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene Neuromuscular Disorders . 5 (5): 391-398 .
3 10065021 1998 Arbustini, E., Fasani, R., Morbini, P., Diegoli, M., Grasso, M., Dal Bello, B., Marangoni, E., Banfi, P., Banchieri, N., Bellini, O., Comi, G., Narula, J., Campana, C., Gavazzi, A., Danesino, C., Vigano, M. (1998) Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [published erratum appears in Heart 1999 Mar;81(3):330] Heart . 80 (6): 548-558 .
4 15823923 2005 Abu-Amero, K. K., Bosley, T. M., Bohlega, S., Hansen, E. (2005) Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS Ophthalmic Genetics . 26 (1): 31-36 .
5 18587274 2008 Choi, B. O., Hwang, J. H., Kim, J., Cho, E. M., Cho, S. Y., Hwang, S. J., Lee, H. W., Kim, S. J., Chung, K. W. (2008) A MELAS syndrome family harboring two mutations in mitochondrial genome Experimental and Molecular Medicine . 40 (3): 354-360 .
6 21249588 2011 Liu, C. H., Liou, C. W., Liu, C. H., Kuo, H. C., Chu, C. C., Huang, C. C. (2011) Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient Acta Neurologica Taiwanica . 20 (1): 53-58 .
7 15282179 2004 Lenaz, G., Baracca, A., Carelli, V., D'Aurelio, M., Sgarbi, G., Solaini, G. (2004) Bioenergetics of mitochondrial diseases associated with mtDNA mutations Biochimica et Biophysica Acta . 1658 (1-2): 89-94 .
8 29976239 2018 Tseng, C. C., Chen, C. J., Yen, J. H., Huang, H. Y., Chang, J. G., Chang, S. J., Liao, W. T. (2018) Next-generation sequencing profiling of mitochondrial genomes in gout Arthritis Research and Therapy . 20 (1): 137 .
9 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutatation . 41 (10): .